Results 111 to 120 of about 845 (152)

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies

Biochemical and Biophysical Research Communications, 2004
Lafora's disease (LD) is an autosomal recessive and fatal form of epilepsy with onset in late childhood or adolescence. One of the characteristic features of LD pathology is the presence of periodic acid-Schiff (PAS) positive Lafora inclusion bodies.
Subramaniam, Ganesh, Naomi, Tsurutani, Toshimitsu, Suzuki, Yoshinobu, Hoshii, Tokuhiro, Ishihara, Antonio V, Delgado-Escueta, Kazuhiro, Yamakawa   +6 more
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Glycogen hyperphosphorylation underlies lafora body formation

Annals of Neurology, 2010
AbstractObjective:Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its function, through extreme branching. Lafora bodies are aggregates of polyglucosan, a long, linear, poorly branched, and insoluble form of glycogen.
Julie, Turnbull, Peixiang, Wang, Jean-Marie, Girard, Alessandra, Ruggieri, Tony J, Wang, Arman G, Draginov, Alexander P, Kameka, Nela, Pencea, Xiaochu, Zhao, Cameron A, Ackerley, Berge A, Minassian   +10 more
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Lafora's Disease

Archives of Neurology, 1986
A patient had the clinical and neuropathologic signs of Lafora's disease. Skin biopsy specimens from the midcalf area confirmed earlier findings by showing numerous periodic acid-Schiff-positive inclusion bodies in eccrine sweat gland duct cells. In our patient, however, inclusion bodies were more abundantly present in the apocrine sweat gland duct ...
B L, Busard, W O, Renier, F J, Gabreëls, H H, Jaspar, U J, van Haelst, J L, Slooff   +5 more
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Studies in Myoclonus Epilepsy (Lafora Body Form)

Archives of Neurology, 1968
THE LAFORA body form of myoclonus epilepsy is a genetically-determined (recessive) disease. It usually begins clinically in the teens, and ends fatally two to ten years later. 1,2 Its cardinal clinical features are those of a progressive seizure disorder, with myoclonus, dementia, ataxia, and dysarthria. 3 The round inclusions described by Lafora are
S, Yokoi, J, Austin, F, Witmer, M, Sakai
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PROGRESSIVE MYOCLONIC EPILEPSY WITH LAFORA'S BODIES

Acta Neurologica Scandinavica, 2009
Two cases of Lafora's disease of rapid evolution with a typical clinical picture, and increased glutamic acid urine excretion are described. Partial critical control was obtained using clonazepam. The relation-ship between PME and heredodegenerative ataxia is discussed; the existence of subacute and precocious forms with long evolution in Lafora's ...
E S, Lope, S, Ramón, S R, Junquera, A B, Berenguel   +3 more
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Progression of the EEG in Lafora-Body Disease

American Journal of EEG Technology, 1993
ABSTRACT.Lafora-body disease is classified as progressive myoclonus epilepsy. The disease is characterized by the triad of epilepsy, myoclonus, and progressive dementia. Deposits called Lafora bodies are found in the central nervous system and other organs, including the liver and skin.
Karen Reese, Camilo Toro, Beth Malow, Susumu Sato   +3 more
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Lafora body disease: a case of progressive myoclonic epilepsy

BMJ Case Reports, 2020
Progressive myoclonic epilepsy (PME) is a progressive neurological disorder. Unfortunately, until now, no definitive curative treatment exists; however, it is of utmost importance to identify patients with PME. The underlying aetiology can be pinpointed if methodological clinical evaluation is performed, followed by subsequent genetic testing.
Ranjot, Kaur, Neeraj, Balaini, Sudhir, Sharma, Sudarshan Kumar, Sharma   +3 more
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Lafora-like bodies in a cat

Acta Neuropathologica, 1979
Lafora-like bodies in an 8-year-old cat were studied light and electron microscopically and histochemically. In addition ot Lafora-like bodies composed of branching filaments, glycogen granules and electron-dense materaisl, abnormal accumulations of glycogen granules attracted attention.
Y, Suzuki, S, Kamiya, K, Ohta, S, Suu
exaly   +3 more sources

Myoclonic Epilepsy With Lafora Bodies

Archives of Neurology, 1971
The ultrastructural cytochemical study of a brain biopsy and the biochemical study of a muscle biopsy from a 20-year-old girl with typical familial progressive myoclonic epilepsy of Lafora body type yielded the following findings: No evidence of acid phosphatase activity was observed in the great majority of the Lafora bodies, indicating that they do ...
P, Gambetti, S, Di Mauro, L, Hirt, R P, Blume   +3 more
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Lithium exacerbates Lafora body formation in the Epm2a Lafora disease mouse model

Neuroscience Letters
Lafora disease (LD) is a fatal neurodegenerative epilepsy of teenagers due to accumulations of overlong-branched glycogen (Lafora bodies, LBs) and caused by deficient laforin or its interacting partner malin. While how the laforin-malin complex regulates glycogen chain lengths is unknown, it is known that downregulating the glycogen chain-elongating ...
Jun Wu, Tori C. Lynn, Silvia Nitschke, Sharmistha Mitra, Berge A. Minassian   +4 more
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